rs730880032

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs730880032(A;A)

Make rs730880032(A;C)

Reference

GRCh38.p2 38.2/144

Chromosome

22

Position

23767592

Gene	CHCHD10, LOC107985577

is a	snp
is	mentioned by
dbSNP	rs730880032
dbSNP (classic)	rs730880032
ClinGen	rs730880032
ebi	rs730880032
HLI	rs730880032
Exac	rs730880032
Gnomad	rs730880032
Varsome	rs730880032
LitVar	rs730880032
Map	rs730880032
PheGenI	rs730880032
Biobank	rs730880032
1000 genomes	rs730880032
hgdp	rs730880032
ensembl	rs730880032
geneview	rs730880032
scholar	rs730880032
google	rs730880032
pharmgkb	rs730880032
gwascentral	rs730880032
openSNP	rs730880032
23andMe	rs730880032
SNPshot	rs730880032
SNPdbe	rs730880032
MSV3d	rs730880032
GWAS Ctlg	rs730880032

Max Magnitude

0

ClinVar
Risk	rs730880032(A;A) rs730880032(G;G)
Alt	rs730880032(A;A) rs730880032(G;G)
Reference	Rs730880032(C;C)
Significance	Pathogenic
Disease	Myopathy
Variation	info
Gene	CHCHD10
CLNDBN	Myopathy, isolated mitochondrial, autosomal dominant
Reversed	1
HGVS	NC_000022.10:g.24109779G>C; NC_000022.10:g.24109779G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000192234.1, RCV000157071.4,